Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

por Bremova-Ertl, Tatiana, Hofmann, Jan, Stucki, Janine, Vossenkaul, Anja, Gautschi, Matthias
Publicado 2023

An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders

por Kraus, Ludwig, Kremmyda, Olympia, Bremova-Ertl, Tatiana, Barceló, Sebastià, Feil, Katharina, Strupp, Michael
Publicado 2019

No Evidence of a Contribution of the Vestibular System to Frequent Falls in Progressive Supranuclear Palsy

por Goldschagg, Nicolina, Bremova-Ertl, Tatiana, Bardins, Stanislav, Dinca, Nora, Feil, Katharina, Krafczyk, Siegbert, Lorenzl, Stefan, Strupp, Michael
Publicado 2019

Acetylation turns leucine into a drug by membrane transporter switching

por Churchill, Grant C., Strupp, Michael, Factor, Cailley, Bremova-Ertl, Tatiana, Factor, Mallory, Patterson, Marc C., Platt, Frances M., Galione, Antony
Publicado 2021

Retinal axonal degeneration in Niemann–Pick type C disease

por Havla, Joachim, Moser, Marlene, Sztatecsny, Clara, Lotz-Havla, Amelie S., Maier, Esther M., Hizli, Baccara, Schinner, Regina, Kümpfel, Tania, Strupp, Michael, Bremova-Ertl, Tatiana, Schneider, Susanne A.
Publicado 2020

Acetyl-leucine slows disease progression in lysosomal storage disorders

por Kaya, Ecem, Smith, David A, Smith, Claire, Morris, Lauren, Bremova-Ertl, Tatiana, Cortina-Borja, Mario, Fineran, Paul, Morten, Karl J, Poulton, Joanna, Boland, Barry, Spencer, John, Strupp, Michael, Platt, Frances M
Publicado 2020

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

por Bremova-Ertl, Tatiana, Schiffmann, Raphael, Patterson, Marc C., Belmatoug, Nadia, Billette de Villemeur, Thierry, Bardins, Stanislavs, Frenzel, Claudia, Malinová, Věra, Naumann, Silvia, Arndt, Juliane, Mengel, Eugen, Reinke, Jörg, Strobl, Ralf, Strupp, Michael
Publicado 2018

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

por Cortina-Borja, Mario, te Vruchte, Danielle, Mengel, Eugen, Amraoui, Yasmin, Imrie, Jackie, Jones, Simon A., i Dali, Christine, Fineran, Paul, Kirkegaard, Thomas, Runz, Heiko, Lachmann, Robin, Bremova-Ertl, Tatiana, Strupp, Michael, Platt, Frances M.
Publicado 2018

Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C

por Bremova-Ertl, Tatiana, Claassen, Jens, Foltan, Tomas, Gascon-Bayarri, Jordi, Gissen, Paul, Hahn, Andreas, Hassan, Anhar, Hennig, Anita, Jones, Simon A., Kolnikova, Miriam, Martakis, Kyriakos, Raethjen, Jan, Ramaswami, Uma, Sharma, Reena, Schneider, Susanne A.
Publicado 2021

A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C

por Bremova‐Ertl, Tatiana, Abel, Larry, Walterfang, Mark, Salsano, Ettore, Ardissone, Anna, Malinová, Věra, Kolníková, Miriam, Gascón Bayarri, Jordi, Reza Tavasoli, Ali, Reza Ashrafi, Mahmoud, Amraoui, Yasmina, Mengel, Eugen, Kolb, Stefan A., Brecht, Andreas, Bardins, Stanislavs, Strupp, Michael
Publicado 2021

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

por Colombo, Alessio, Dinkel, Lina, Müller, Stephan A., Sebastian Monasor, Laura, Schifferer, Martina, Cantuti-Castelvetri, Ludovico, König, Jasmin, Vidatic, Lea, Bremova-Ertl, Tatiana, Lieberman, Andrew P., Hecimovic, Silva, Simons, Mikael, Lichtenthaler, Stefan F., Strupp, Michael, Schneider, Susanne A., Tahirovic, Sabina
Publicado 2021

A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiec...

por Fields, T., Patterson, M., Bremova-Ertl, T., Belcher, G., Billington, I., Churchill, G. C., Davis, W., Evans, W., Flint, S., Galione, A., Granzer, U., Greenfield, J., Karl, R., Kay, R., Lewi, D., Mathieson, T., Meyer, T., Pangonis, D., Platt, F. M., Tsang, L., Verburg, C., Factor, M., Strupp, M.
Publicado 2021